Canonical Allele Identifier: CA383455076

Gene: KCNA1

Linked Data

• MyVariant Identifiers: chr12:g.5021214G>C (hg19) ; chr12:g.4912048G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912048G>C , CM000674.2:g.4912048G>C	GRCh38
NC_000012.11:g.5021214G>C , CM000674.1:g.5021214G>C	GRCh37
NC_000012.10:g.4891475G>C	NCBI36
NG_011815.1:g.7142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.670G>C MANE Select	ENSP00000371985.3:p.Val224Leu
ENST00000543874.3:n.105+1576G>C
ENST00000639306.1:c.508G>C	ENSP00000492506.1:p.Val170Leu
ENST00000382545.3:c.670G>C	ENSP00000371985.3:p.Val224Leu
ENST00000541095.1:n.105+1576G>C
ENST00000543874.2:n.96+1576G>C
NM_000217.2:c.670G>C	NP_000208.2:p.Val224Leu
NM_000217.3:c.670G>C MANE Select	NP_000208.2:p.Val224Leu